Gene Variant Detail

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Gene KIT
Variant V560A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V560A lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). V560A results in increased autophosphorylation of Kit in cultured cells (PMID: 10224103), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT V560A

KIT mutant KIT exon11 KIT V560A

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Transcript NM_000222.3
gDNA chr4:g.54727447T>C
cDNA c.1679T>C
Protein p.V560A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178.1 chr4:g.54727447T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727447T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727444T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727444T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
NM_000222 chr4:g.54727447T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727444T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727447T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727447T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727444T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727447T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727444T>C c.1679T>C p.V560A RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727444T>C c.1679T>C p.V560A RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References